ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.79-6C>T

gnomAD frequency: 0.00069  dbSNP: rs201682989
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000284507 SCV000400719 benign Hereditary liability to pressure palsies 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000465862 SCV000400720 benign Charcot-Marie-Tooth disease, type I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000857576 SCV000514184 benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Invitae RCV000465862 SCV000562723 benign Charcot-Marie-Tooth disease, type I 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000857576 SCV001151226 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing PMP22: BP4, BS2
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173927 SCV001337046 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002418182 SCV002678027 likely benign Inborn genetic diseases 2019-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002502246 SCV002812364 benign Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 2021-09-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000421868 SCV001922418 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000421868 SCV001931904 benign not specified no assertion criteria provided clinical testing

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